An interdisciplinary Inherited Retinal Disease clinic improves time to genetic diagnosis and access to genetics services

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Authors: Melissa R. Goldin, Heezy Suh, Cecilia Kessler, Andres M Dones, Daniella Zubieta, JaLisa Decker, Milam A. Brantley
Cited by: 0
References: 31

Abstract

Background Inherited Retinal Diseases (IRDs) are a leading cause of genetic vision loss. Ophthalmic and genetic care for patients with IRDs requires extensive interdisciplinary coordination. In this retrospective cohort study, we compared timeliness and access to genetics services between a referral-based clinic model and an interdisciplinary clinic model.Methods 374 patients were evaluated for IRDs between January 2021 and February 2025. 239 (64%) were seen in a retina clinic with the option for referral to genetics services; 135 (35%) were seen in an interdisciplinary clinic offering same-day ophthalmology and genetic services. Outcomes were analyzed using chi-squared tests and general linear models. The primary outcomes were time to genetic diagnosis, genetic test completion, and genetic counseling utilization.Results Mean time to genetic diagnosis was significantly shorter in the interdisciplinary clinic (67 days) compared to the retina clinic (286 days) (p < 0.001). A higher proportion of those seen in the interdisciplinary model completed genetic testing (90.00% vs. 78.25%, p = 0.035) and saw a genetic counselor (64.66% vs. 48.12%, p < 0.001).Conclusions Interdisciplinary care expedited genetic diagnosis, increased genetic testing completion, and increased genetic counseling utilization in IRD evaluations. Timely genetic diagnosis may facilitate access to clinical trials, alleviate diagnostic uncertainty, and aid in planning for the future.

Fields of Study & Subjects

Retinal Development and Disorders Genomics and Rare Diseases Ophthalmology and Visual Health Research

Publication details

Journal / source
Ophthalmic Genetics
Volume
47
Issue
3
Pages
268–274
Publication date
23 February 2026
Language
EN